A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021968



Internal ID18764502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115877465..116090771hg38UCSC Ensembl
Innerchr5:115213162..115426468hg19UCSC Ensembl
Innerchr5:115241061..115454367hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38213307
hg19213307
hg18213307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5789n100
Supporting Variantsnssv3647088
Samples
Known GenesAP3S1, AQPEP, ARL14EPL, COMMD10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021968
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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